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Majeed syndrome

ORPHA:77297 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(13)

  • Abnormal bone marrow cell morphologyHP:0005561
  • Abnormal inflammatory responseHP:0012647
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • CachexiaHP:0004326
  • Congenital hypoplastic anemiaHP:0004810
  • FeverHP:0001945
  • Hypochromic microcytic anemiaHP:0004840
  • Metaphyseal irregularityHP:0003025
  • OsteomyelitisHP:0002754
  • PapuleHP:0200034
  • PustuleHP:0200039
  • Weight lossHP:0001824

Frequent (79-30%)(10)

  • AcneHP:0001061
  • EdemaHP:0000969
  • Failure to thriveHP:0001508
  • HeadacheHP:0002315
  • HepatomegalyHP:0002240
  • Increased bone mineral densityHP:0011001
  • Increased total leukocyte countHP:0001974
  • MyalgiaHP:0003326
  • SplenomegalyHP:0001744
  • SynovitisHP:0100769

Occasional (29-5%)(9)

  • CoughHP:0012735
  • Flexion contractureHP:0001371
  • GlomerulopathyHP:0100820
  • Increased susceptibility to fracturesHP:0002659
  • Inflammatory abnormality of the skinHP:0011123
  • MalabsorptionHP:0002024
  • Microscopic hematuriaHP:0002907
  • ProteinuriaHP:0000093
  • Pulmonary infiltratesHP:0002113